| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1703 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935726, LOC129935727 +1665 more | Copy number gain | See cases | |
| | LOC129935713, LOC129935714 +1299 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC110120629, LOC110120691 +986 more | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (S57R +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (R61fs +1 more) | Duplication (frameshift variant) | not provided | |
| | PNKD, CATIP-AS2 (T84I +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (R61C +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | PNKD, CATIP-AS2 (R85H +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +2 more | |
| | CATIP-AS2, PNKD (T86I +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (G89R +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | CATIP-AS2, PNKD (G89A +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (Y66fs +1 more) | Duplication (frameshift variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (Y90C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (R70* +1 more) | Single nucleotide variant (nonsense) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (R94Q +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | |
| | CATIP-AS2, PNKD (R98S +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (R74H +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (R74L +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +2 more | GConflicting classifications of pathogenicity |
| | PNKD, CATIP-AS2 (R98P +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CATIP-AS2, PNKD (A100V +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | GConflicting classifications of pathogenicity |
| | CATIP-AS2, PNKD (R101W +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | GConflicting classifications of pathogenicity |
| | CATIP-AS2, PNKD (R101P +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (R101Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | CATIP-AS2, PNKD (R103C +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (R103H +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Deletion (nonsense) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (Y80F +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (Y80* +1 more) | Single nucleotide variant (nonsense) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (P81L +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (K106N +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 | |
| | CATIP-AS2, PNKD (G83V +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (G83A +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (H108N +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (H108R +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +2 more | GConflicting classifications of pathogenicity |
| | CATIP-AS2, PNKD (S109L +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (T111A +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | PNKD, CATIP-AS2 (R114C +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | CATIP-AS2, PNKD (R90H +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | |
| | CATIP-AS2, PNKD (L115V +1 more) | Single nucleotide variant (missense variant) | PNKD-related disorder | |
| | PNKD, CATIP-AS2 (F116L +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (N117S +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (intron variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (splice acceptor variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (V119A +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (K120R +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (I100fs +1 more) | Duplication (frameshift variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (I124fs +1 more) | Deletion (frameshift variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (P99L +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia 1 +1 more | |
| | PNKD, CATIP-AS2 (I124V +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | |
| | CATIP-AS2, PNKD (I100T +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (I124N +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (S104P +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (S128L +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | PNKD, CATIP-AS2 (Y107H +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (Y131C +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (S108G +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CATIP-AS2, PNKD (I111T +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia +1 more | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (I136M +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (D137N +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | | Single nucleotide variant (synonymous variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (Q115E +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (Q115* +1 more) | Single nucleotide variant (nonsense) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (A116V +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (A143S +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |
| | CATIP-AS2, PNKD (A143P +1 more) | Single nucleotide variant (missense variant) | Paroxysmal nonkinesigenic dyskinesia | |